ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825280086
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312379
ClinVar RCV Id:
RCV000331049
RCV000455157
RCV000757022
RCV002522293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ile1023Val
CA6988609
NM_001005918.3:c.3067A>G